Mutation Details for c.980T>G

cDNA Name

c.980T>G

Protein Name

p.Leu327Arg

Exon or Intron

exon 8

Legacy Exon or Intron

exon 7

Legacy Name

L327R

Other Details

This mutation is a substitution of T to G at position 1112 in nucleotide sequence and causes the replacement of a leucine by arginine residue in codon 327. This variation was observed by SSCP analysis during screening of CF samples for mutations. We are currently investigating wheter or not this alteration is a mutation or polymorphism.

Contributors

Ravnik-Glavac M,
Glavac D,
Dean M
1993-02-07

Institute

Department of Health & Human Services
Frederick, MD, USA

Submitted Phenotype Details

Reference

Ravnik-Glavac et al. (NL#53)

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The Database was last updated at Apr 25, 2011